Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.

abstract：:Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diag...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güran T,Değirmenci S,Bulut İK,Say A,Riepe FG,Güran Ö

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnormalities, and neuropsychiatric disorders. We evaluated patients presen...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sherif M,Demirbilek H,Cayir A,Tahir S,Cavdarli B,Demiral M,Cebeci AN,Vuralli D,Rahman SA,Unal E,Buyukyilmaz G,Baran RT,Ozbek MN,Hussain K

更新日期：2020-09-17 00:00:00

abstract：:Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal period. Family 1: ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sethi A,Foulds N,Ehtisham S,Ahmed SH,Houghton J,Colclough K,Didi M,Flanagan SE,Senniappan S

更新日期：2020-11-25 00:00:00

abstract：:Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for many hematological disorders, primary immunodeficiencies, and metabolic disorders. Thyroid dysfunction is one of the frequently seen complications of HSCT. However, hyperthyroidism due to Graves' disease, autoimmune thyroiditis, and thyr...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sağ E,Gönç N,Alikaşifoğlu A,Kuşkonmaz B,Uçkan D,Özön A,Kandemir N

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVE:To explore the effects of maternal high-fat (HF) diet-induced obesity on fetal growth and the expression of placental nutrient transporters. METHODS:Maternal obesity was established in rats by 8 weeks of pre-pregnancy fed HF diet, while rats in the control group were fed normal (CON) diet. Diet-induced obesi...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ye K,Li L,Zhang D,Li Y,Wang HQ,Lai HL,Hu CL

更新日期：2017-12-15 00:00:00

abstract：Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 th...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Gürbüz F,Alkan M,Çelik G,Bişgin A,Çekin N,Ünal İ,Topaloğlu AK,Zorludemir Ü,Avcı A,Yüksel B

更新日期：2020-11-25 00:00:00

abstract：:Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocri...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Büyükçelik M,Keskin M,Keskin Ö,Bay A,Kılıç BD,Kor Y,Kılınç MA,Balat A

更新日期：2014-01-01 00:00:00

abstract：:Vitamin D intoxication usually occurs as a result of inappropriate use of vitamin D preparations and can lead to life-threatening hypercalcemia. It is also known that there are a number of physicians who prescribe vitamin D supplements for various clinical conditions, such as poor appetite and failure to thrive. While...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Anık A,Çatlı G,Abacı A,Dizdarer C,Böber E

更新日期：2013-01-01 00:00:00

abstract：:Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Özhan B,Boz Anlaş Ö,Sarıkepe B,Albuz B,Semerci Gündüz N

更新日期：2017-09-01 00:00:00

abstract：:Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Koç Yekedüz M,Şıklar Z,Burgu B,Kuloğlu Z,Kocaay P,Çamtosun E,İsakoca M,Kansu A,Soygür T,Berberoğlu M

更新日期：2017-06-01 00:00:00

abstract：:Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. Affected individuals have normal birth weight, but growth deceleration starts at about 8-10 years of age. In patients with the dis...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Pirgon Ö,Atabek ME,Tanju IA

更新日期：2009-01-01 00:00:00

abstract：:Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by a temporary isolated elevation of serum alkaline phosphatase activity (ALP), predominantly its bone or liver isoform, in either sick or healthy children under 5 years of age. Return to normal ALP levels usually occurs within four mo...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Kutilek S,Cervickova B,Bebova P,Kmonickova M,Nemec V

更新日期：2012-09-01 00:00:00

abstract：:In 2011, the Department of Health (England) will publish revised You're Welcome criteria. This is the first comprehensive attempt to define good quality health services for young people (11-19 years) and provide a self-assessment tool applicable to all adolescent health services. It builds on a growing understanding o...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Hargreaves DS

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defe...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Arman A,Dündar BN,Çetinkaya E,Erzaim N,Büyükgebiz A

更新日期：2014-12-01 00:00:00

abstract：:Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resultin...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Cangül H,Demir K,Babayiğit HÖ,Abacı A,Böber E

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:Stosstherapy has been used since early 19th century for treating nutritional rickets. However, there are no clear cut guidelines for the biochemical monitoring of this treatment. Repeated blood tests at short intervals increase the cost of therapy and noncompliance. METHODS:A prospective study was conducted ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Chatterjee D,Swamy MK,Gupta V,Sharma V,Sharma A,Chatterjee K

更新日期：2017-03-01 00:00:00

abstract：:The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region o...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Mengen E,Kayhan G,Kocaay P,Uçaktürk SA

更新日期：2020-09-02 00:00:00

abstract：:A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Roth T,Nair S,Kumar A

更新日期：2010-01-01 00:00:00

abstract：Objective:No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Demir K,Döneray H,Kara C,Atay Z,Çetinkaya S,Çayır A,Anık A,Eren E,Uçaktürk A,Can Yılmaz G,Törel Ergür A,Kendirci M,Aycan Z,Bereket A,Aydın M,Orbak Z,Özkan B

更新日期：2019-05-28 00:00:00

abstract：OBJECTIVE:To find out the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS:The girls who presented with early breast development before the age of 8 years were evaluated. Patients with intracranial pathologies were excluded. Basal and ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Parlak M,Türkkahraman D,Ellidağ HY,Çelmeli G,Parlak AE,Yılmaz N

更新日期：2017-06-01 00:00:00

abstract：:Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenev...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güran T

更新日期：2017-12-30 00:00:00

abstract：Objective:Doses of gonadotropin releasing hormone (GnRH) analogues used to treat idiopathic central precocious puberty (iCPP) vary among clinicians. Study aims were to evaluate the efficacy of a monthly 3.75 mg dose of leuprolide acetate (LA) to suppress the hypothalamo-pituitary-gonadal (HPG) axis in girls with iCPP a...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Vurallı D,Alikaşifoğlu A,İyigün İ,Canoruç D,Ozon A,Gönç N,Kandemir N

更新日期：2020-03-19 00:00:00

abstract：OBJECTIVE:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS pati...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Şıklar Z,Genens M,Poyrazoğlu Ş,Baş F,Darendeliler F,Bundak R,Aycan Z,Savaş Erdeve Ş,Çetinkaya S,Güven A,Abalı S,Atay Z,Turan S,Kara C,Can Yılmaz G,Akyürek N,Abacı A,Çelmeli G,Sarı E,Bolu S,Korkmaz HA,Şimşek E,

更新日期：2016-09-01 00:00:00

abstract：:3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiograp...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güven A,Cebeci AN

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:To determine exposure to endocrine-disrupting phthalates in preterm infants in neonatal intensive care units (NICU). METHODS:Urine samples (n=151) from 36 preterm infants (<32 weeks of gestation and/or <1500 g of birth weight) were collected on the first 3 days of admission to the NICU and biweekly thereafte...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Demirel A,Çoban A,Yıldırım Ş,Doğan C,Sancı R,İnce Z

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:Insulin glargine provides effective glycemic control when administered at bedtime in adults. OBJECTIVE:This study aims to investigate whether insulin glargine is equally effective if administered in the morning or at bedtime in combination with preprandial anologue insulin. METHODS:Twenty-eight patients th...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Şimşek DG,Yıldız B,Asar G,Darcan S

更新日期：2008-01-01 00:00:00

abstract：:Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Zhang X,Fan Y,Liu X,Zhu MA,Sun Y,Yan H,He Y,Ye X,Gu X,Yu Y

更新日期：2019-11-22 00:00:00

abstract：:Recent studies have shown that small for gestational age (SGA) term infants undergo catch-up growth during infancy but there is limited studies on early growth outcomes of extreme premature SGA infants. The aim of this study was to compare factors associated during birth in extremely premature infants less than 28 wee...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ng SM,Pintus D,Turner MA

更新日期：2019-02-20 00:00:00

abstract：OBJECTIVE:While acute alterations in leptin, insulin, cortisol and growth hormone (GH) levels have been reported in children following weight change interventions, little is known about natural hormonal changes as children grow and how these changes are affected by unprovoked weight status changes. The purpose of this ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ondrak KS,McMurray RG,Hackney AC,Harrell JS

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although the association between lipid metabolism, adiponectin, and metabolic syndrome is well known, that between obesity, insulin resistance, and osteocalcin h...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Abseyi N,Şıklar Z,Berberoğlu M,Hacıhamdioğlu B,Savaş Erdeve Ş,Öçal G

更新日期：2012-12-01 00:00:00